Clinical and immunogenetic characteristics of European multicase rheumatoid arthritis families

doi:10.1136/ard.60.6.573

Annals of the Rheumatic Diseases 2001;60:573-576; doi:10.1136/ard.60.6.573

Ann Rheum Dis 2001;60:573-576 ( June )

Extended report

Clinical and immunogenetic characteristics of European multicase rheumatoid arthritis families A Balsa^a, P Barrera^b, R Westhovens^c, H Alves^d, K Maenaut^c, D Pascual-Salcedo^a, F Cornélis^e ^f, T Bardin^e, L Riente^g, T R D J Radstake^b, G de Almeida^d, V Lepage^h, C Stravopoulosⁱ, M Spaepen^c, A Lopes-Vaz^d, D Charron^h, M Martinez^j, J F Prudhomme^f, P Migliorini^g, P Fritz^e ^f ^*, for the European Consortium on Rheumatoid Arthritis Families (ECRAF)

^a Rheumatology Unit, University Hospital La Paz, 28046 Madrid, Spain, ^b University Hospital, 6500HB Nijmegen, The Netherlands, ^c Katholieke Universiteit Leuven, 3212 Pellenberg, Belgium, ^d Hospital S Joao, 4200 Porto, Portugal, ^e Hôpital Lariboisiere, 75010 Paris, France, ^f Généthon, 91002 Evry, France, ^g Instituto de Patologia Medica, 56126 Pisa, Italy, ^h Laboratoire d'Histocompatibilité, Hospital Saint-Louis, 75010 Paris, France, ⁱ National Tissue Typing Centre, 11527 Athens, Greece, ^j Institut National de la Santé et de la Recherche Médicale E06, 75010 Paris, France

Correspondence to: Dr A Balsa, Rheumatology Unit, University Hospital La Paz, Paseo de la Castellana, 261, 28046 Madrid, Spain abalsa{at}hulp.insalud.es

Accepted for publication 3 October 2000

OBJECTIVE $---$ To describe the characteristics of a new set of European families with affected sib pairs (ASP) collected by the EuropeanConsortium on Rheumatoid Arthritis Families (ECRAF) to replicatethe results of our first genome scan. Potential gradients fordisease severity in Europe and concordance within families werestudied.
PATIENTS AND METHODS $---$ From 1996 to 1998 European white families with at least two affected siblings were enrolled in the study. Demographic (sex,age at onset), clinical data (rheumatoid factor (RF), diseaseduration, erosive disease, extra-articular features (EF)), andHLA-DRB1 oligotyping wereanalysed.
RESULTS $---$ 565 patients with rheumatoid arthritis (RA), belonging to 271 families including 319 affected sib pairs (ASP) were collected.Belgium, France, Italy, the Netherlands, Portugal, and Spain contributed20, 96, 52, 24, 9, and 70 families, respectively. Sex (78% women),age at onset (mean 44 years), and RF positivity (79%) were similaramong the countries. Differences were found in disease duration(11-18 years) and in the prevalence of erosive disease (70-93%),nodules (15-44%), subjective Sjögren's syndrome (5-38%), and EF(3-16%) (p<0.05 in all cases). A total of 22% RA sibs were sharedepitope (SE) negative, whereas 47% and 30% carried one and twoSE alleles respectively. Carriage of SE differed widely amongcountries (p<0.0001): no SE alleles (6-36%), one allele (43-60%),and two alleles (20-39%). SE encoding alleles were mainly DRB1*04in the Netherlands and Belgium, whereas SE carriage was less commonand evenly distributed between DRB1*01, *04, and *10 in Mediterraneancountries. No concordance within families was found either inage/calendar year of onset (intraclass correlation coefficient<0.50) or in clinical and radiological features ( $kappa$ <0.22).
CONCLUSIONS $---$ The differences in RA characteristics between European countries and within families underline the heterogeneity of the disease.No clear cut gradient of disease severity was seen inEurope.

^* See appendix.

Note: the first two authors contributed equally to the writing of thispaper.

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